High burden of disease in patients with homozygous familial hypercholesterolemia despite recent advances in therapies and updated guidelines: A real-world study
Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare autosomal dominant genetic disorder of lipid metabolism, caused by mutations in genes that encode for proteins involved in the hepatocellular uptake and catabolism of low-density lipoprotein (LDL).1-3 Of genetically confirmed HoFH cases, approximately 90% are caused by loss-of-function mutations in the genes coding for the low-density lipoprotein receptor (LDLR),4 low-density lipoprotein receptor adaptor protein 1 (LDLRAP1), and apolipoprotein B (APOB).
